ClinVar Miner

Variants studied for Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
27 8 631 540 43 1 1248

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNJ1 27 8 627 540 43 1 1244
CFAP298, SYNJ1 0 0 2 0 0 0 2
ATP5PO, C21orf62, CFAP298, CLIC6, CRYZL1, DNAJC28, DONSON, EVA1C, GART, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, MIS18A, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, RCAN1, RUNX1, SCAF4, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, URB1 0 0 1 0 0 0 1
CFAP298, CFAP298-TCP10L, LOC125418061, LOC130066544, LOC130066545, SYNJ1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 8 631 539 43 0 1248
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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